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Модель оценки медико-экономической эффективности раннего выявления наследственных злокачественных новообразований с использованием результатов полногеномных и таргетных исследований
Background. Malignant neoplasms can be caused by a genetic predisposition. The identification of clinically significant mutations enables to determine the risk of developing neoplasms of other localizations in patients and primary tumors in unaffected relatives. Besides, diagnosis of oncological diseases at an early stage increases the effectiveness of their treatment. One of the objectives of the genetic diagnostics is to reduce the malignant neoplasms associated incidence and mortality in families with a high hereditary risk, which reduces the financial burden for patients and the state.
Aim: The main purpose of this study is to develop a model of medical and economic efficiency assessment of early malignant neoplasms diagnosis based on genome-wide and targeted studies.
Materials and Methods. We have used data from the study "Development of a personalized approach in providing medical care to persons with hereditary forms of malignant neoplasms in the Yamalo-Nenets Autonomous Okrug" as well as official data from Federal State Statistics Service, the Social Fund of Russia, the Territorial Compulsory Medical Insurance Fund of the Yamalo-Nenets Autonomous Okrug and the Ministry of Economic Development of the Russian Federation. To assess the medical and economic efficiency, the classical method of cost-benefit analysis was applied to compare the social costs in the case of genetic testing (genome-wide and targeted sequencing) of patients and their relatives and the social costs without genetic testing.
Results. Whole-genome and targeted genetic testing of a 200-patients sample with diagnosed malignant neoplasms, provided the survival of study participants and their relatives and considering demographic indicators up to retirement age, allows to save 1 billion rubles (the cumulative social effect over a 20–years period using an average age of 40 years for patients with pathogenic genetic variants), primarily by reducing mortality.
Conclusions. Despite the high initial costs of genetic testing, it allows to detect malignant neoplasms at an early stage, which is especially effective for relatives of patients. In the long term, the expenses are more than covered not only by saving costs of the cancer treatment at a late stage, the social payments, and other disability benefits, but also by preserving human capital, especially the labor function of patients.